“We run the program for the entire province,” she says. These products are not easily accessible and need to be ordered through Le programme alimentaire Québécois pour le traitement de maladies métaboliques héréditaires, which is run out of the Montreal Children’s Hospital. Once a child moves onto solid foods, Marie prescribes specialized food products, like low-protein pasta. All the answers are in the blood and the diet needs to be followed for life.” “In a lot of cases, you can’t visually tell if a child is not following my recommendations. “If I notice a huge variation it either means that I haven’t prescribed enough of something and I need to adjust their diet, or the child is not following the diet,” says Marie.
#Maple syrup urine disease in adults series
In some cases, the buildup is so dangerous that a child needs to undergo dialysis in order to remove the toxic products rapidly from their body before starting the diet.Įvery time Marie sees a patient, she runs a series of blood tests to analyze the child’s nutritional status and then compares the results to the previous visit to make sure there are no spikes or drops in the patient’s amino acid levels. If the condition is diagnosed early on and the diet is strictly followed, patients can go on to live normal lives, but the buildup of waste can happen quickly if the diet is not respected or when the patient gets sick from a simple cold or gastroenteritis. “Not only do I have to make sure the patient reduces the amount of toxic waste in their system, but I also have to make sure that they continue to grow and develop properly,” she says. Prescribing the perfect balance of nutrients is also challenging, because every patient is completely unique. “So cornstarch, a simple cooking ingredient, becomes a medication.” “They also need to wake up in the middle of the night to eat corn starch otherwise their blood sugar will dip dangerously low and it could even be fatal,” explains Marie. In order to reduce glycogen in the body, the patient has to eliminate dairy products (galactose), fruits (fructose), table sugar (sucrose) and sorbitol from their diet. Glycogen storage disease type 1 is another type of inborn error of metabolism and is caused by the buildup of glycogen, a storage form of glucose in the body's liver and muscle cells. “I see newborn patients weekly for the first six months and continue to meet with them regularly into adulthood.” Depending on the condition, Marie will either prescribe a tailor-made formula or will give instructions to the mother on how much breastmilk the baby can drink. “Certain foods lead to the production of certain toxic products, which is why we need to treat these patients quickly,” she says.
Working with these patients, Marie has to either eliminate a type of food completely or reduce it in order to avoid the accumulation of toxic waste in the body. If one of these diseases is detected at birth, the child is immediately put on a specialized diet.
“Without proper treatment, adults can be left with the mental capacity of a six-month-old,” she says. For PKU patients, this missing enzyme can lead to the harmful buildup of phenylalanine in the blood, which left untreated, can lead to irreversible brain damage. The common thread between all these diseases is that in every case there is a missing or dysfunctional enzyme.
“We can now identify four of these diseases from a heel prick soon after birth, but we’re working on increasing that number,” says Marie. In the early 1970s, Quebec started screening for a few types of these diseases at birth, including the most common one, phenylketonuria (PKU). And the main treatment is a specialized diet. The buildup of these products occurs when certain foods are digested and can lead to serious health problems and developmental issues. The term ‘inborn error of metabolism’ refers to a series of rare genetic diseases where a child’s enzyme activity is malfunctioning and therefore leads to the accumulation of toxic products in their blood, like urea or ammonia. Over the years, her field has grown tremendously and she now treats over 100 pediatric and adult patients a year. Marie Lefrançois thought about quitting nutrition twice before finding her niche: treating patients with inborn errors of metabolism (IEM).
0 kommentar(er)
